{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826197776",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 651,
          "referenceAllele": "Y",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018620",
      "geneNCBI_id": 25839,
      "geneSymbol": "COG4",
      "hgvs": [
        "NP_001182068.2:p.Tyr651His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA396578965",
          "hgvs": "NM_001195139.2:c.1951T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707819"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1332956[alleleid]",
        "alleleId": 1332956,
        "preferredName": "NM_015386.3(COG4):c.2026T>C (p.Tyr676His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341707",
        "RCV": [
          "RCV001837187"
        ],
        "variationId": 1341707
      }
    ]
  },
  "type": "amino-acid"
}